Genetics Flashcards
List the 6 characteristics of a good screening test with regard to the condition
- Common/Public health problems
- Causes significant morbidity/mortality
- Clearly identifiable pre-clinical stage
- intervention available
- intervention acceptable
- cost effective to offer treatment
List the 6 characteristics of a good screening test regarding the test itself
- voluntary
- informed consent
- high sensitivity
- acceptable
- diagnostic test available
- strategy for managing incidental finding
what does sequential screening refer to with regards genetics screening?
one member of the couple is screened (usually the woman) and then only if her screen is positive for an autosomal recessive disease does the other partner get screened
What does couple screening refer to with regards genetic screening?
both members of a couple are screened for conditions at the same time
what is the carrier frequency of CF in Australasia?
1:35
What is the carrier frequency of spinal muscular atrophy?
1:50
What is the carrier frequency of Fragile X syndrome?
1:332
What are the main clinical features associated with CF?
recurrent lung infections
malabsorption
shortened life span
what are the main clinical features of spinal muscular atrophy?
severe muscle weakness
death usually during childhood
what are the main clinical features associated with fragile x syndrome?
intellectual disability
autism
which specific screening options are available for women of Eastern European jewish descent? (Ashkenazi jewish descent)
Tay Sachs disease Niemann Pick disease type A Fanconi anaemia Type C Familial dysautonomia Bloom Syndrome Canavan disease Mucolipidosis Type IV
Which chromosome is responsible for the genetic information to make the alpha haemoglobin subunit?
Chromosome 16
Which chromosome is responsible for the genetic information to code for the Hb Beta subunit?
Chromosome 11
Which chromosome contains the genetic information for the haemoglobin gamma subunit
Chromosome 11
What is haemoglobin H disease?
deletion of three alpha globin genes resulting in a person with mild anaemia, neonatal jaundice, not usually transfusion dependent however can be in times of increased haemolysis (like infection or pregnancy)
